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A new X-linked variant of chronic granulomatous disease characterized by
the existence of a normal clone of respiratory burst-competent phagocytic
cells
RC Woodman, PE Newburger, P Anklesaria, RW Erickson, J Rae, MS Cohen and JT Curnutte
Department of Molecular and Experimental Medicine, Research Institute of
Scripps Clinic, LaJolla, CA.
Chronic granulomatous disease (CGD) is characterized by recurrent
infections, and is usually associated with a complete inability of
phagocytic cells to generate superoxide anion (O2-). Rarely, variant forms
of CGD have been reported in which there is reduced, but detectable, O2-
production by phagocytic cells. We describe three adult males in two
kindreds with a unique form of X-linked cytochrome b558- deficient (X91-)
CGD not previously reported. All three patients had two distinct
populations of phagocytic cells, with one subset capable of normal
respiratory burst activity and the other larger subset inactive, as in
classic CGD (X91 (0)). The respiratory burst activity in neutrophils
purified from each patient was approximately 10% of normal as determined by
O2- production, O2 consumption, cytochrome b558 spectroscopy, and membrane
oxidase activity using a cell-free activation system. In contrast with
other patients with X91(-)-variant CGD, the unique feature of these
patients is the presence of a small but significant population (5% to 15%)
of circulating neutrophils and monocytes with completely normal respiratory
burst activity as assessed by nitroblue tetrazolium (NBT) reduction and
flow-cytometric measurement of dihydrorhodamine oxidation. NBT reduction of
peripheral blood granulocyte-macrophage progenitor cells also showed the
presence of a subset of colonies derived from myeloid progenitor cells that
had normal respiratory burst capabilities. A mosaic XX chromosome karyotype
and an unstable oxidase complex that might occur during myeloid maturation
were both excluded as possible explanations. In these families, the
molecular defect in the gp91-phox gene, which is currently under
investigation, appears to prevent expression of the gene in the majority of
neutrophils, but not in a small subset. Our studies suggest that commitment
to either a respiratory burst-competent or -incompetent phagocytic cell
occurs at the level of the myeloid progenitor cell.
Volume 85,
Issue 1,
pp. 231-241,
01/01/1995
Copyright © 1995 by The American Society of Hematology
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